Mutation, MissensePoint MutationMutationFrameshift MutationMolecular Sequence DataPedigreeAmino Acid SequenceGerm-Line MutationDNA Mutational AnalysisBase SequenceSequence DeletionExonsAmino Acid SubstitutionHeterozygoteCodon, NonsenseProtein Structure, TertiaryMutagenesis, Site-DirectedPolymorphism, Single-Stranded ConformationalPolymerase Chain ReactionAllelesPhenotypeHomozygoteMutation RateMutagenesisSequence Analysis, DNAGenotypeCell LineSequence Homology, Amino AcidGenes, RecessiveGenes, DominantDNA PrimersBinding SitesProtein BindingModels, MolecularTransfectionDNA-Binding ProteinsEscherichia coliGene DeletionSequence AlignmentGenetic TestingCodonSyndromeMutant ProteinsCloning, MolecularSuppression, GeneticRecombinant ProteinsChromosome MappingStructure-Activity RelationshipConsanguinityTranscription FactorsMembrane ProteinsCOS CellsGenetic Complementation TestDNAGenetic LinkageRecombinant Fusion ProteinsProtein ConformationSaccharomyces cerevisiaeGenetic Predisposition to DiseasePlasmidsCarrier ProteinsFounder EffectBacterial ProteinsFamily HealthTranscription, GeneticNuclear ProteinsGenes, p53KineticsGenetic VariationIntronsPolymorphism, GeneticRNA, MessengerProtein Structure, SecondaryModels, GeneticEye ProteinsSignal TransductionConserved SequenceAbnormalities, MultipleDNA, ComplementaryHeterozygote DetectionCercopithecus aethiopsGenetic Diseases, X-LinkedMutagenesis, InsertionalProteinsGenes, BRCA1Promoter Regions, GeneticGene FrequencyCodon, TerminatorCricetinaeProto-Oncogene ProteinsRNA Splice SitesSaccharomyces cerevisiae ProteinsAge of OnsetDNA, NeoplasmRNA SplicingRetinitis PigmentosaProtein TransportAmino Acid MotifsCells, CulturedBlotting, Western